Publications:

The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects.

Frontiers In Genetics

Diboun, Ilhame I; Al-Sarraj, Yasser Y; Toor, Salman M SM; Mohammed, Shaban S; Qureshi, Nadeem N; Al Hail, Moza S H MSH; Jayyousi, Amin A; Al Suwaidi, Jassim J; Albagha, Omar M E OME

Publication Date: 2022

Variant appearance in text: PCSK9: Arg582*; rs373323910

PubMed Link: 35910211

Variant Present in the following documents:

• Main text
• fgene-13-927504.pdf

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Association of Common and Rare Genetic Variation in the 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Gene and Cataract Risk.

Journal Of The American Heart Association

Ghouse, Jonas J; Ahlberg, Gustav G; Skov, Anne Guldhammer AG; Bundgaard, Henning H; Olesen, Morten S MS

Publication Date: 2022-06-21

Variant appearance in text: PCSK9: Arg582Ter

PubMed Link: 35703387

Variant Present in the following documents:

• JAH3-11-e025361.pdf
• JAH3-11-e025361-s001.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs373323910

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Ebiomedicine

Jamuar, Saumya Shekhar SS; Kuan, Jyn Ling JL; Brett, Maggie M; Tiang, Zenia Z; Tan, Wilson Lek Wen WL; Lim, Jiin Ying JY; Liew, Wendy Kein Meng WK; Javed, Asif A; Liew, Woei Kang WK; Law, Hai Yang HY; Tan, Ee Shien ES; Lai, Angeline A; Ng, Ivy I; Teo, Yik Ying YY; Venkatesh, Byrappa B; Reversade, Bruno B; Tan, Ene Choo EC; Foo, Roger R

Publication Date: 2016-03

Variant appearance in text: rs373323910

PubMed Link: 27077130

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page